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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hydrocolpos
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Accession:DOID:9005371 term browser browse the term
Definition:A fluid-filled VAGINA that is obstructed.
Synonyms:primary_id: MESH:D052202;   RDO:0004097
For additional species annotation, visit the Alliance of Genome Resources.


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McKusick-Kaufman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKKS MKKS centrosomal shuttling protein ISO OMIM NCBI chr24:11,887,504...11,914,055
Ensembl chr24:11,898,236...11,913,740
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13805
    disease of anatomical entity 13462
      reproductive system disease 2627
        female reproductive system disease 1655
          vaginal disease 31
            Hydrocolpos 1
              McKusick-Kaufman syndrome 1
Path 2
Term Annotations click to browse term
  disease 13805
    disease of anatomical entity 13462
      Urogenital Diseases 3844
        Female Urogenital Diseases and Pregnancy Complications 1951
          Female Urogenital Diseases 1659
            female reproductive system disease 1655
              vaginal disease 31
                Hydrocolpos 1
                  McKusick-Kaufman syndrome 1
paths to the root